G2R (p.Gly2Arg) variant of PDGFRA (P16234)
G2R (p.Gly2Arg) in PDGFRA (P16234) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Gastrointestinal stromal tumor. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
G2R (p.Gly2Arg) variant details
- p.Gly2Arg
- rs1722515922
- ClinGen CA356888041
- cosmic curated COSV10508
- ClinVar RCV001047724
- Uncertain significance
- not provided; Gastrointestinal stromal tumor
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.14
- MetaLR 0.51
- MetaSVM -0.17
- CADD 25.60
- PolyPhen-2 0.95
- SIFT 0.06
- ClinVar: Uncertain significance (not provided; Gastrointestinal stromal tumor)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: The UK NEQAS for Molecular Genetics scheme for gastrointestinal stromal tumour: findings and recommendations following… (PMID 22685257)
- Cited in: Tumor markers in colorectal cancer, gastric cancer and gastrointestinal stromal cancers: European group on tumor… (PMID 23852704)